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RS1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

RS1 gene

The RS1 gene provides instructions for making the protein retinoschisin, which is essential for the organization and maintenance of the retina.

Normal Function

The RS1 gene provides instructions for making a protein called retinoschisin, which is found in the retina. The retina is a specialized light-sensitive tissue that lines the back of the eye. Retinoschisin attaches (binds) to the surface of specialized cells within the retina that detect light and color (photoreceptor cells). The protein also binds to bipolar cells, which relay light signals from photoreceptor cells to other retinal cells.

Studies suggest that retinoschisin plays a role in the development and maintenance of the retina and its specialized cells. Retinoschisin is likely involved in the organization of cells in the retina by attaching cells together (cell adhesion).

Health Conditions Related to Genetic Changes

X-linked juvenile retinoschisis

More than 220 mutations in the RS1 gene have been found to cause X-linked juvenile retinoschisis. This disorder causes tiny splits (schisis) or tears to form in the retina, which results in progressive vision loss in males. Most of the RS1 gene mutations change one protein building block (amino acid) in the retinoschisin protein, although many different types of mutations have been identified.

Research suggests that the various mutations in the RS1 gene can lead to several functional issues:

  • Alter the 3-dimensional structure of the protein.
  • Impair the protein's ability to attach cells together (cell adhesion).
  • Cause misplacement of the protein within retinal cells.
  • Prevent protein production.

Changes in the retinoschisin protein function or production disrupt its role in the maintenance and organization of the retina. As a result, splitting or tearing of the retina can occur, causing the vision problems associated with X-linked juvenile retinoschisis.

Other Names for This Gene

  • retinoschisin
  • retinoschisis (X-linked, juvenile) 1
  • RS
  • X-linked juvenile retinoschisis protein
  • XLRS1
  • XLRS1_HUMAN

Frequently Asked Questions

Currently, there is no cure for X-linked juvenile retinoschisis, and treatments primarily focus on managing complications and preserving existing vision. This may include regular monitoring for retinal detachment or hemorrhage, which can sometimes be treated with laser surgery or vitrectomy. While current treatments cannot reverse the underlying vision loss, ongoing research into gene therapy holds promise for future interventions that could potentially prevent or slow down the progression of the disease.
X-linked juvenile retinoschisis primarily affects males because they have only one X chromosome. If a male inherits a mutated RS1 gene on his X chromosome, he will develop the condition. Females, having two X chromosomes, are typically carriers; they usually do not show symptoms because their second, healthy X chromosome can compensate. However, female carriers have a 50% chance of passing the mutated gene to each of their sons, who would then be affected, and a 50% chance of passing it to each of their daughters, who would become carriers. Genetic counseling is important for families with a history of the condition.
Early signs of X-linked juvenile retinoschisis often appear in childhood, typically between ages 5 and 10. These can include blurred central vision, difficulty reading, problems with fine detail, or sometimes strabismus (crossed eyes) or nystagmus (involuntary eye movements). The vision loss is progressive, meaning it worsens over time, and can lead to significant impairment, though complete blindness is rare. Peripheral vision is usually less affected initially.
Diagnosis typically involves a comprehensive eye exam by an ophthalmologist. Key tests include ophthalmoscopy, where the doctor looks into the back of the eye to identify the characteristic splits or tears (schisis) in the retina. Optical Coherence Tomography (OCT) provides detailed cross-sectional images of the retina, clearly showing the schisis. Electroretinography (ERG) measures the electrical activity of retinal cells, often showing a specific pattern in affected individuals. Genetic testing for mutations in the RS1 gene confirms the diagnosis.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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